Ceroid lipofuscinosis, neuronal, 1

Preferred Label : Ceroid lipofuscinosis, neuronal, 1;

Symbol : CLN1;

CISMeF acronym : CLN1; INCL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, 1, variable age at onset;

Included titles and symbols : Neuronal ceroid lipofuscinosis, infantile; Santavuori disease; Santavuori-haltia disease; INCL;

Description : The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. - Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 (204500), caused by mutation in the CLN2 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4A (204300), caused by mutation in the CLN6 gene (602780) on 15q21; CLN4B (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q; CLN6 (601780), caused by mutation in the CLN6 gene (602780) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), caused by mutation in the CLN8 gene (607837) on 8pter; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q; CLN12 (606693), caused by mutation in the ATP13A2 gene (610513) on 1p36; CLN13 (615362), caused by mutation in the CTSF gene (603539); and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11. CLN9 (609055) has not been molecularly characterized.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the palmitoyl-protein thioesterase 1 gene (PPT1, 600722.0001);

Laboratory abnormalities : Granular osmiophilic cytoplasmic deposits (GROD) ultrastructurally in cells; Decreased activity of PPT1; Fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid;

Prefixed ID : #256730;

Details

Origin ID

256730;

UMLS CUI

C1850451;

Automatic exact mappings (from CISMeF team)
- PPT1 wt Allele [NCIt concept]
- palmitoyl-protein thioesterase 1 [ORDO Gene]
- palmitoyl-protein thioesterase 1 [HGNC gene]
Currated CISMeF NLP mapping
- CLN1 disease [ORDO Disease]
- Infantile neuronal ceroid lipofuscinosis [ICD-11 More detail]
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Infantile neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Neuronal Ceroid Lipofuscinosis Type 1 [NCIt concept]
- ceroid lipofuscinosis, neuronal 1, infantile [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 1 [MeSH concept]
- ceroid lipofuscinosis, neuronal, 1 [MeSH Supplementary Concept]
- infantile neuronal ceroid lipofuscinosis [MeSH concept]
- infantile neuronal ceroid lipofuscinosis [SNOMED Notion]
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid lipofuscinosis 1 [DO Concept]
DO Cross reference
- neuronal ceroid lipofuscinosis 1 [DO Concept]
Genes related to phenotype
- Palmitoyl-protein thioesterase 1 [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral atrophy, progressive [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Depression [HPO term]
- EEG abnormality [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hallucinations [HPO term]
- Hypotonia [HPO term]
- Increased neuronal autofluorescent lipopigment [HPO term]
- Intellectual disability [HPO term]
- Irritability [HPO term]
- Loss of speech [HPO term]
- Macular degeneration [HPO term]
- Myoclonus [HPO term]
- Onset [HPO term]
- Optic atrophy [HPO term]
- Progressive microcephaly [HPO term]
- Progressive visual loss [HPO term]
- Psychomotor deterioration [HPO term]
- Reduced or abolished electroretinogram [HPO term]
- Retinal degeneration [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Spasticity [HPO term]
- Undetectable electroretinogram [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Adult neuronal ceroid lipofuscinosis [ORDO Disease]
- CLN1 disease [ORDO Disease]
- Infantile neuronal ceroid lipofuscinosis [ORDO Disease]
- Juvenile neuronal ceroid lipofuscinosis [ORDO Disease]
- Late infantile neuronal ceroid lipofuscinosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CLN1 disease [ORDO Disease]
- ceroid lipofuscinosis, neuronal, 1 [MeSH Supplementary Concept]
- ceroid lipofuscinosis, neuronal, 1 [MeSH concept]
Validated automatic mappings to NTBT
- infantile neuronal ceroid lipofuscinosis [Disease (Nov.)]
- neuronal ceroid-lipofuscinoses [MeSH Descriptor]

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